{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830348526",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 411,
          "referenceAllele": "A",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003260",
      "geneNCBI_id": 8890,
      "geneSymbol": "EIF2B4",
      "hgvs": [
        "NP_751945.2:p.Ala411Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA44511340",
          "hgvs": "NM_172195.4:c.1232C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183195"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2839104[alleleid]",
        "alleleId": 2839104,
        "preferredName": "NM_001034116.2(EIF2B4):c.1172C>A (p.Ala391Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2671576",
        "RCV": [
          "RCV003448661"
        ],
        "variationId": 2671576
      }
    ]
  },
  "type": "amino-acid"
}